LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 6 of total 6

Search options

  1. Article: An armamentarium of wart treatments.

    Lipke, Michelle M

    Clinical medicine & research

    2006  Volume 4, Issue 4, Page(s) 273–293

    Abstract: Patients and clinicians experience the frustration of cutaneous viral warts caused by infection with the human papilloma virus (HPV).Warts appear in various forms on different sites of the body and include common warts (verruca vulgaris), plane or flat ... ...

    Abstract Patients and clinicians experience the frustration of cutaneous viral warts caused by infection with the human papilloma virus (HPV).Warts appear in various forms on different sites of the body and include common warts (verruca vulgaris), plane or flat warts, myrmecia, plantar warts, coalesced mosaic warts, filiform warts, periungual warts, anogenital warts (venereal or condyloma acuminata), oral warts and respiratory papillomas. Cervical infection with HPV is now known to cause cervical cancer if untreated. A review of the medical literature reveals a huge armamentarium of wart monotherapies and combination therapies. Official evidence-based guidelines exist for the treatment of warts, but very few of the reported treatments have been tested by rigorous blinded, randomized controlled trials.Therefore, official recommendations do not often include treatments with reportedly high success rates, but they should not be ignored when considering treatment options. It is the purpose of this review to provide a comprehensive overview of the wart treatment literature to expand awareness of the options available to practitioners faced with patients presenting with problematic warts.
    MeSH term(s) Condylomata Acuminata/therapy ; Female ; Humans ; Male ; Papillomavirus Infections/therapy ; Tumor Virus Infections/therapy ; Uterine Cervical Neoplasms/therapy
    Language English
    Publishing date 2006-12-12
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2303793-3
    ISSN 1539-4182
    ISSN 1539-4182
    DOI 10.3121/cmr.4.4.273
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6719: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article: Cold panniculitis: delayed onset in an adult.

    Lipke, Michelle M / Cutlan, Jonathan E / Smith, Ann C

    Cutis

    2015  Volume 95, Issue 1, Page(s) 21–24

    Abstract: The panniculitides are a complex dermatologic entity for both dermatologists and dermatopathologists. Panniculitis is an inflammation of the subcutaneous adipose tissue and can be associated with systemic diseases. We present a case of cold panniculitis, ...

    Abstract The panniculitides are a complex dermatologic entity for both dermatologists and dermatopathologists. Panniculitis is an inflammation of the subcutaneous adipose tissue and can be associated with systemic diseases. We present a case of cold panniculitis, a form of traumatic panniculitis, in a 37-year-old woman that was caused by a cold therapy unit. Our patient did not develop lesions until 10 days following initiation of therapy, which is a unique presentation of cold panniculitis, as lesions usually develop 1 to 3 days after cold exposure.
    MeSH term(s) Adult ; Biopsy ; Cryotherapy/adverse effects ; Diagnosis, Differential ; Female ; Humans ; Panniculitis/diagnosis
    Language English
    Publishing date 2015-01
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 391840-3
    ISSN 0011-4162 ; 0151-9522
    ISSN 0011-4162 ; 0151-9522
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.B 1315: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 44: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article: Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.

    Martinez, Noelia Nunez / Lipke, Michelle / Robinson, Jacqueline / Wilcken, Bridget

    JIMD reports

    2018  Volume 44, Page(s) 17–21

    Abstract: Sialuria is a rare autosomal dominant inborn error of metabolism characterized by cytoplasmic accumulation and urinary excretion of gram quantities of free sialic acid due to failure of feedback inhibition of the rate-limiting enzyme in the sialic acid ... ...

    Abstract Sialuria is a rare autosomal dominant inborn error of metabolism characterized by cytoplasmic accumulation and urinary excretion of gram quantities of free sialic acid due to failure of feedback inhibition of the rate-limiting enzyme in the sialic acid synthesis pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK). To date, eight cases had been published worldwide, all with heterozygous missense variants at the allosteric site, specifically at Arginine 294 (formerly 263) and Arginine 297 (formerly 266) of GNE. The described cases so far have rather homogeneous clinical features which include developmental delay, mildly coarse features, hepatomegaly and prolonged neonatal jaundice. The apparent rarity of this disorder is hypothesized to be due to the variable and sometimes transient nature of the clinical features and to the absence of routine testing for urinary sialic acids. Here we present the ninth case of sialuria diagnosed in a child investigated because of clinical signs and symptoms and furthermore describe a novel pathogenic variant in the associated gene, GNE.
    Language English
    Publishing date 2018-06-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1007/8904_2018_117
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article: N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

    Selvanathan, Arthavan / Demetriou, Kalliope / Lynch, Matthew / Lipke, Michelle / Bursle, Carolyn / Elliott, Aoife / Inwood, Anita / Foyn, Leanne / McWhinney, Brett / Coman, David / McGill, Jim

    JIMD reports

    2022  Volume 63, Issue 5, Page(s) 420–424

    Abstract: N-acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1). Patients often suffer life-threatening episodes of ... ...

    Abstract N-acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1). Patients often suffer life-threatening episodes of hyperammonaemia, both in the neonatal period and also at subsequent times of catabolic stress. Because NAGS generates the cofactor for CPS1, these two disorders are difficult to distinguish biochemically. However, there have now been numerous case reports of 3-methylglutaconic aciduria (3-MGA), a marker seen in mitochondrial disorders, occurring in CPS1 deficiency. Previously, this had not been reported in NAGS deficiency. We report a four-day-old neonate who was noted to have 3-MGA at the time of significant hyperammonaemia and lactic acidosis. Low plasma citrulline and borderline orotic aciduria were additional findings that suggested a proximal urea cycle disorder. Subsequent molecular testing identified bi-allelic pathogenic variants in
    Language English
    Publishing date 2022-07-22
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1002/jmd2.12318
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

    Ewans, Lisa J / Minoche, Andre E / Schofield, Deborah / Shrestha, Rupendra / Puttick, Clare / Zhu, Ying / Drew, Alexander / Gayevskiy, Velimir / Elakis, George / Walsh, Corrina / Adès, Lesley C / Colley, Alison / Ellaway, Carolyn / Evans, Carey-Anne / Freckmann, Mary-Louise / Goodwin, Linda / Hackett, Anna / Kamien, Benjamin / Kirk, Edwin P /
    Lipke, Michelle / Mowat, David / Palmer, Elizabeth / Rajagopalan, Sulekha / Ronan, Anne / Sachdev, Rani / Stevenson, William / Turner, Anne / Wilson, Meredith / Worgan, Lisa / Morel-Kopp, Marie-Christine / Field, Michael / Buckley, Michael F / Cowley, Mark J / Dinger, Marcel E / Roscioli, Tony

    European journal of human genetics : EJHG

    2022  Volume 30, Issue 10, Page(s) 1121–1131

    Abstract: Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES in a ... ...

    Abstract Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WGS and WES in a cohort with suspected Mendelian disorders. WGS was performed in 38 WES-negative families derived from a 64 family Mendelian cohort that previously underwent WES. For new WGS diagnoses, contemporary WES reanalysis determined whether variants were diagnosable by original WES or unique to WGS. Diagnostic rates were estimated for WES and WGS to simulate outcomes if both had been applied to the 64 families. Diagnostic costs were calculated for various genomic testing scenarios. WGS diagnosed 34% (13/38) of WES-negative families. However, contemporary WES reanalysis on average 2 years later would have diagnosed 18% (7/38 families) resulting in a WGS-specific diagnostic yield of 19% (6/31 remaining families). In WES-negative families, the incremental cost per additional diagnosis using WGS following WES reanalysis was AU$36,710 (£19,407;US$23,727) and WGS alone was AU$41,916 (£22,159;US$27,093) compared to WES-reanalysis. When we simulated the use of WGS alone as an initial genomic test, the incremental cost for each additional diagnosis was AU$29,708 (£15,705;US$19,201) whereas contemporary WES followed by WGS was AU$36,710 (£19,407;US$23,727) compared to contemporary WES. Our findings confirm that WGS is the optimal genomic test choice for maximal diagnosis in Mendelian disorders. However, accepting a small reduction in diagnostic yield, WES with subsequent reanalysis confers the lowest costs. Whether WES or WGS is utilised will depend on clinical scenario and local resourcing and availability.
    MeSH term(s) Base Sequence ; Chromosome Mapping ; Exome ; Humans ; Whole Exome Sequencing ; Whole Genome Sequencing
    Language English
    Publishing date 2022-08-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-022-01162-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

    Ewans, Lisa J / Schofield, Deborah / Shrestha, Rupendra / Zhu, Ying / Gayevskiy, Velimir / Ying, Kevin / Walsh, Corrina / Lee, Eric / Kirk, Edwin P / Colley, Alison / Ellaway, Carolyn / Turner, Anne / Mowat, David / Worgan, Lisa / Freckmann, Mary-Louise / Lipke, Michelle / Sachdev, Rani / Miller, David / Field, Michael /
    Dinger, Marcel E / Buckley, Michael F / Cowley, Mark J / Roscioli, Tony

    Genetics in medicine : official journal of the American College of Medical Genetics

    2018  Volume 20, Issue 12, Page(s) 1564–1574

    Abstract: Purpose: Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to ... ...

    Abstract Purpose: Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to assess the utility of WES data reanalysis for diagnosis in Mendelian disorders and to analyze the cost-effectiveness of this technology compared with a traditional diagnostic pathway.
    Methods: WES was applied to a cohort of 54 patients from 37 families with a variety of Mendelian disorders to identify the genetic etiology. Reanalysis was performed after 12 months with an improved WES diagnostic pipeline. A comparison was made between costs of a modeled WES pathway and a traditional diagnostic pathway in a cohort with intellectual disability (ID).
    Results: Reanalysis of WES data at 12 months improved diagnostic success from 30 to 41% due to interim publication of disease genes, expanded phenotype data from referrer, and an improved bioinformatics pipeline. Cost analysis on the ID cohort showed average cost savings of US$586 (AU$782) for each additional diagnosis.
    Conclusion: Early application of WES in Mendelian disorders is cost-effective and reanalysis of an undiagnosed individual at a 12-month time point increases total diagnoses by 11%.
    MeSH term(s) Computational Biology ; Cost-Benefit Analysis/economics ; Exome/genetics ; Female ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/economics ; Genetic Diseases, Inborn/genetics ; Genetic Testing/economics ; Genetic Testing/trends ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Phenotype ; Whole Exome Sequencing/economics ; Whole Exome Sequencing/trends
    Language English
    Publishing date 2018-03-29
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2018.39
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top